G13C (p.Gly13Cys) variant of TRMU (O75648)
G13C (p.Gly13Cys) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G13C (p.Gly13Cys) variant details
- p.Gly13Cys
- gnomAD 22-46335801-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.09
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available